Late-Onset COL4A1 Mutation with Recurrent Ischemic and Hemorrhagic Strokes.

Abstract excerpt

INTRODUCTION: Mutations in type IV collagen gene COL4A1 are identified as a cause of autosomal dominant cerebrovascular disease. We report an unusual late-onset presentation. CASE REPORT: A 64-year-old male was found to have an ischemic stroke and diffuse white matter changes. Genetic testing revealed COL4A1 gene mutation of heterozygous Alu insertion at intron 16. Alu elements are known as "jumping genes," and...

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